Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

ABSTRACT: Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

SUBMITTER: Kammoun M 

PROVIDER: S-EPMC5839023 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature